A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv592820



Internal ID16380229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:191343165..191352195hg38UCSC Ensembl
Innerchr3:191060954..191069984hg19UCSC Ensembl
Innerchr3:192543648..192552678hg18UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg389031
hg199031
hg189031
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8792n54
Supporting Variantsnssv1152286, nssv1152287, nssv1152285, nssv983573, nssv983574
SamplesHGDP00191, HGDP00898, HGDP00469
Known GenesCCDC50
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv592820
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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